Down syndrome patients are living longer despite health challenges

View full sizeSARAH PRIESTAP, The Patriot-NewsCarson Kauffman, 5, plays with his mother, Heather Fox-Kauffman at their home in South Middleton Twp.

Newborns demand a lot of care, but Heather Kauffman hadn’t expected a sometimes daily commute from her South Middleton Twp. home to Hershey for the first several months of her son’s life.

Heart problems, vision and hearing problems, enlarged tonsils, reflux, sleep apnea — those are just the first items on the list of medical challenges that Carson faced as a result of being born with Down syndrome.

And yet, his mother declared, “I would not trade this for all the money in the world. Every day is a challenge in front of us, but he has overcome so many obstacles. To see him accomplish so much is beyond words.”

Down syndrome, the most common single cause of human birth defects, according to the National Institutes of Health, affects one in every 733 babies born.

Of the three types of Down syndrome, Trisomy 21 accounts for the majority of cases and results in three copies of chromosome 21 instead of the usual two copies in all the child’s cells. The extra chromosome causes problems in how the body and brain develop.

Though parents of children with Down syndrome will often use words such as “devastated” and “overwhelmed” when describing their initial reaction to their child’s diagnosis, they will just as quickly follow up with words like “blessed” and “enriched” when describing life since then.

“I lost the idea of the perfect child that every woman dreams of,” said Cori Guillaume, 34, of Carlisle. “But Anthony has changed our lives in a way that is just remarkable. He really helped us to slow down and put things in perspective. He brought us back to the basics of life.”

Heather Kauffman agrees. These days, just the sight of 5½-year-old Carson blowing a kiss her way brings his mother much joy. And to watch him run down a hill and play soccer with his daddy, well, “That’s just something I’d never have believed I’d see,” she said.

As they drove to New Jersey in March 2005, Heather and Steve Kauffman knew they were adopting a baby born prematurely — at just 1 pound 15 ounces — who had serious medical problems. They didn’t find out until their son was more than a month old that he had Down syndrome.

“It explained a heck of a lot about his heart problems, his breathing problems, his prematurity, said Heather Kauffman, 41. “We were devastated with his diagnosis, of course, but we decided to live day by day and treat him like any other child.”

Dr. Roger Ladda, a pediatrician and clinical geneticist at Penn State Milton S. Hershey Medical Center, said many families who have a child with Down syndrome find it is not the devastating event they expected.

“There is the recognition that the perfect baby they were expecting didn’t arrive, but our experience is that parents rapidly adapt,” he said. “Fundamentally, that general perception about Down syndrome is founded on misinformation of the ancient past leading to anticipation of a much worse condition. The outlook for children with Down syndrome is really quite positive. Their survivability and quality of life has been transfigured in the last 40 years.”

People with Down syndrome are living longer now — to age 50 and well beyond — thanks to advances in medical technology that can repair many of the congenital malformations they were born with, Ladda said.

“The heart is the major issue,” Ladda said. “Forty to 60 percent of Down syndrome babies have heart problems, and it’s essential that they be evaluated in the newborn period.” Often the babies suffer from an atrial septal defect — a hole between chambers of the heart, which can usually be repaired with surgery, he said.

Hearing and visual problems common to Down syndrome babies need to be assessed and addressed aggressively, Ladda said.

Carson Kauffman has been wearing glasses since age 2 and is on his third set of tubes in his ears after many ear infections, Heather Kauffman said. “From nine months to a year old, we were doing antibiotics almost constantly for his ears,” she said.

Carson also suffered from gastrointestinal reflux early in life, a common problem among babies with Down syndrome, according to Ladda. Sometimes these babies are born with malformations of the gut or an imperforate anus, which can be corrected with surgery, he said.

To address the problem of sleep apnea, Carson’s tonsils and adenoids were removed, his mother said. Sleep apnea affects about half of babies born with Down syndrome, Ladda said.

View full sizeCHRIS KNIGHT, The Patriot-News Spencer Grab, 15, of Lower Paxton Twp., is looking for a little more independence from his parents, Carol and Daniel Grab.

Speech is the biggest problem that Spencer Grab, 15, struggles with, said his mom, Carol Grab. “He can say complete sentences now, but he has to slow down or you can’t understand him,” said the Lower Paxton Twp. woman whose son will enter Central Dauphin East High School this fall. Spencer takes speech therapy at Hershey Medical Center.

“Language skills are uniformly delayed,” Ladda said. “Although children may not be able to express themselves, they may quite well understand what’s going on. They are certainly capable of learning.” Spencer also has hypothyroidism, which affects his metabolism and makes him tire easily, his mother said.

Autoimmune disorders such as an underactive thyroid, diabetes and various forms of arthritis might also go along with Down syndrome, Ladda said.

As people with Down syndrome reach their 40s and 50s, doctors are beginning to see a loss of certain cognitive skills, such as short-term memory, Ladda said. This is sometimes referred to as Alzheimer’s-type dementia because it has the same chemical basis, he said.

Early intervention and the recognition that they should be treated as aggressively as anyone else are two other factors that have contributed to a longer, better life for people with Down syndrome, Ladda said.

In 1986, when Ariela and David Vader learned their newborn daughter, Emily, had Down syndrome, the doctor included information about institutionalization.

“We were fortunate to have infant intervention and then a preschool that offered the different types of therapies that would help Emily to grow to her potential,” said Ariela Vader, 50, of Upper Allen Twp. “Emily is now 24 years old and has surpassed all our expectations. As a toddler, she learned basic signs to help her with communication, and this grew into learning how to sign while singing worship songs in church. Emily enjoys playing the piano and also loves her new job working in a greenhouse.”

A critical issue for success of people with Down syndrome is learning essential life skills — things like personal hygiene, meal preparation and how to take public transportation, Ladda said.

Spencer can do dishes, fold clothes and clean — sometimes better than his older siblings, Carol Grab, 54, said. He talks of getting a job when he grows up and has definite hopes, such as getting married.

“At this age, he’s starting to realize he’s a little different,” his mom said. “He keeps telling me he’s not a baby. I have to stand back and let him be his own person.” As she pulls back, she worries: “Will people take advantage of him? He has a good heart, and it would be easy to do that,” she said. “Sometimes I wonder what he would be like if he didn’t have Down syndrome, but then he wouldn’t be Spencer. He’s really been a blessing.”

The support and positive attitude of parents can greatly contribute to the success of a child born with Down syndrome, Ladda said.

“They often have coaches as parents,” he said, noting that he has observed children with Down syndrome are often friendly, outgoing, trusting and joyful. “They are a reflection of a loving environment of their family.”

Trisomy 21. A child with trisomy 21, which accounts for more than 90 percent of cases, has three copies of chromosome 21 — instead of the usual two copies — in all cells. This form of Down syndrome is caused by abnormal cell division during the development of the sperm cell or the egg cell.

Mosaic Down syndrome. In this rare form of Down syndrome, children have some cells with an extra copy of chromosome 21. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization.

Translocation Down syndrome. This uncommon form occurs when chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. Children with translocation Down syndrome have the usual two copies of chromosome 21, but they also have additional material from chromosome 21 stuck to the translocated chromosome.

Medical conditions seen in babies with Down syndrome include:

Birth defects involving the heart

Eye and hearing problems

Gastrointestinal reflux

Long-term constipation problems

Sleep apnea

Underactive thyroid (hypothyroidism)

Teeth that appear later than normal and in a location that can cause problems chewing